Varaico: Literature-Extracted Genetic Variants

ASXL3

394 papers

RefSeq Summary

This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate...

Pfam Domains

HARE-HTHaa 10–81UCSCHB1, ASXL, restriction endonuclease HTH domain

ASXHaa 235–360UCSCAsx homology domain

PHD_3aa 2188–2246UCSCPHD domain of transcriptional enhancer, Asx

Gene Aliases

HGNC Name

ASXL transcriptional regulator 3

HGNC Previous Symbol

KIAA1713

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_030632.3

p.N469_H470insFs

c.1406_1409dup4

Surrounding Variants

1 paper

NM_030632.3

p.N469I

c.1406A>T

2 papers

NM_030632.3

p.E468*

c.1402G>T

1 paper

NM_030632.3

p.H470fs

c.1408_1409fs

1 paper

NM_030632.3

p.H470fs

c.1408_1409fs

1 paper

NM_030632.3

p.H470P

c.1409A>C

1 paper

NM_030632.3

p.H470_K471Fs

c.1409_1411delinsTTFs

1 paper

NM_030632.3

p.K471_I473delFs

c.1413_1417del5

1 paper

NM_030632.3

p.K471_E475delFs

c.1413_1425del13

1 paper

NM_030632.3

p.K471fs

c.1411_1412fs

1 paper

NM_030632.3

p.K471fs

c.1411_1412fs

9 papers

NM_030632.3

p.Q466*

c.1396C>T

1 paper

NM_030632.3

p.I473insFs

c.1419dupA